Primary Cilia

The single primary cilium found on the surface of almost all mammalian cell types is a non-motile sensory organelle with a 9+0 microtubule formation. Mutations in key ciliary proteins have been recently linked to multiple diseases such as polycystic kidney disease and Bardet-Biedl Syndrome, collectively called ciliopathies. These discoveries provided the necessary biological significance to increase scientific interest and research in primary cilia. Recent studies suggest that primary cilia regulate the cell cycle, giving them a potential role in carcinogenesis. Pathological mutations occur in genes necessary for cilia morphogenesis or maintenance via intraflagellar transport, disrupting primary cilia function. These organelles also coordinate with multiple signaling pathways such as Hedgehog, WNT, and mTOR. However, extensive research has not yet explained their connection with many disease phenotypes. ...

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The single primary cilium found on the surface of almost all mammalian cell types is a non-motile sensory organelle with a 9+0 microtubule formation. Mutations in key ciliary proteins have been recently linked to multiple diseases such as polycystic kidney disease and Bardet-Biedl Syndrome, collectively called ciliopathies. These discoveries provided the necessary biological significance to increase scientific interest and research in primary cilia. Recent studies suggest that primary cilia regulate the cell cycle, giving them a potential role in carcinogenesis. Pathological mutations occur in genes necessary for cilia morphogenesis or maintenance via intraflagellar transport, disrupting primary cilia function. These organelles also coordinate with multiple signaling pathways such as Hedgehog, WNT, and mTOR. However, extensive research has not yet explained their connection with many disease phenotypes.